Aberrant expressions of miRNA-206 target, FN1, in multifactorial Hirschsprung disease

Gunadi, NYP Budi, AS Kalim, W Santiko… - Orphanet Journal of …, 2019 - Springer
Background MicroRNAs (miRNAs) have been associated with the Hirschsprung disease
(HSCR) pathogenesis, however, the findings are still inconclusive. We aimed to investigate …

Exome sequencing identifies novel genes and variants in patients with Hirschsprung disease

AS Kalim, K Iskandar, DA Puspitarani… - Journal of Pediatric …, 2023 - Elsevier
Background Hirschsprung disease (HSCR) is a complex genetic disease characterized by
the absence of ganglion cells in the intestines, leading to a functional obstruction in infants …

Relationship between TGF-β1+ 869 T/C and+ 915 G/C gene polymorphism and risk of acute rejection in renal transplantation recipients

HY Li, T Zhou, S Lin, W Lin - BMC Medical Genetics, 2019 - Springer
Background This meta-analysis was conducted to assess the relationship between the
transforming growth factor-beta 1 (TGF-β1)+ 869 T/C gene polymorphism,+ 915 G/C gene …

Postoperative enterocolitis assessment using two different cut-off values in the HAEC score in Hirschsprung patients undergoing Duhamel and Soave pull-through

Gunadi, AVR Sukarelawanto, A Ritana, N Balela… - BMC pediatrics, 2020 - Springer
Background Hirschsprung-associated enterocolitis (HAEC) is the most severe and
potentially lethal complication of Hirschsprung disease (HSCR) which might occur following …

Accuracy of transition zone in contrast enema to predict intraoperative aganglionosis level in patients with Hirschsprung disease

Z Haikal, A Dwihantoro, H Gunarti, Gunadi - BMC Research Notes, 2020 - Springer
Objective While frozen section methods have been widely conducted to determine
aganglionosis segment during transanal endorectal pull-through (TEPT) for Hirschsprung …

Aberrant Expressions and Variant Screening of SEMA3D in Indonesian Hirschsprung Patients

Gunadi, AS Kalim, NYP Budi, HM Hafiq… - Frontiers in …, 2020 - frontiersin.org
Background: The semaphorin 3D (SEMA3D) gene has been implicated in the pathogenesis
of Hirschsprung disease (HSCR), a complex genetic disorder characterized by the loss of …

Aberrant SOX10 and RET expressions in patients with Hirschsprung disease

Gunadi, VC Amadeus, FDT Utami, FV Halim… - BMC pediatrics, 2024 - Springer
Background HSCR is a complex genetic disorder characterized by the absence of ganglion
cells in the intestine, leading to a functional obstruction. It is due to a disruption of complex …

Aberrant UBR4 expressions in Hirschsprung disease patients

Gunadi, AS Kalim, E Liana, AR Fauzi, DN Sirait… - BMC pediatrics, 2019 - Springer
Background Recently, pathogenic alleles within ubiquitin N-recognin domain-containing E3
ligase 4 (UBR4) gene have been shown to be associated with Hirschsprung disease …

Quality of life of patients with Hirschsprung disease after Duhamel and Soave pull-through procedures: a mixed-methods sequential explanatory cohort study

MR Saysoo, FST Dewi - Annals of Medicine and Surgery, 2020 - journals.lww.com
Background: Quality of life (QoL) is one of the important outcomes for patients with
Hirschsprung disease (HSCR) after pull-through that provides qualitative data concerning …

Whole genome sequencing reveals epistasis effects within RET for Hirschsprung disease

Y Wang, TSH Mak, S Dattani, MM Garcia-Barcelo… - Scientific Reports, 2022 - nature.com
Common variants in RET and NRG1 have been associated with Hirschsprung disease
(HSCR), a congenital disorder characterised by incomplete innervation of distal gut, in East …